Total 9 pathogenic variants reported for Ependymoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	SNV Germline	Chr1:45331556	Pathogenic/Likely pathogenic	Endometrial cancer Familial adenomatous polyposis 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Neoplasm of stomach Familial adenomatous polyposis 2 Small intestine carcinoid Pilomatrixoma Neoplasm of stomach Familial adenomatous polyposis 2 Ovarian carcinoma Colon cancer Breast carcinoma Familial colorectal cancer MUTYH-related disorder Diffuse midline glioma, H3 K27-altered Inherited polyposis and early onset colorectal cancer - germline testing Gastric cancer Familial adenomatous polyposis 2 Pleomorphic xanthoastrocytoma BRAF mutant Infant-type hemispheric glioma Pilocytic astrocytoma Ependymoma	Criteria Provided Multiple Submitters No Conflicts	CA011561	rs_36053993	77 SubmittersRCV000005615 RCV000005614 RCV000079501 RCV000121598 RCV000115748 RCV000144637 RCV000501239 RCV000477907 RCV000493920 RCV000515320 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004528084 RCV004785246 RCV004808548 RCV005016243 RCV006451760 RCV006451759 RCV006451758 RCV006451889
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	SNV Germline/somatic	ChrX:53409120	Pathogenic	Congenital muscular hypertrophy-cerebral syndrome Condition: not provided Posterior fossa group A ependymoma	Criteria Provided Multiple Submitters No Conflicts	CA255969	rs_122454123	7 SubmittersRCV000012441 RCV001577833 RCV006253465
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)	SNV Germline/somatic	Chr2:157774114	Pathogenic	Progressive myositis ossificans Condition: not provided Inborn genetic diseases Epicanthus ACVR1-related disorder Ependymoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA128036	rs_121912678	22 SubmittersRCV000019971 RCV000422441 RCV001267285 RCV001823099 RCV003904851 RCV006253673 RCV006253674 RCV006253675
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	SNV Germline/somatic	Chr2:157766004	Pathogenic/Likely pathogenic	Progressive myositis ossificans Inborn genetic diseases Condition: not provided Ependymoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA128482	rs_387906589	6 SubmittersRCV000022432 RCV000624246 RCV003556067 RCV006253680 RCV006253681
NM_000268.4(NF2):c.551G>A (p.Trp184Ter)	SNV Somatic	Chr22:29655628	Likely pathogenic	Ependymoma	No Assertion Criteria Provided	CA411142590	rs_1555993293	1 SubmittersRCV000577850
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	SNV Germline	Chr2:47410209	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Ependymoma Hereditary cancer-predisposing syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications	CA346730609	rs_63750126	6 SubmittersRCV000685129 RCV001554318 RCV002286419 RCV002331318 RCV003992370
NM_020975.6(RET):c.1202G>A (p.Ser401Asn)	SNV Germline	Chr10:43109169	Conflicting classifications of pathogenicity	Ependymoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA376547774	rs_1564493414	2 SubmittersRCV000761047 RCV004949893